2024年12月25日 · NR5A1 (Nuclear Receptor Subfamily 5 Group A Member 1) is a Protein Coding gene. Diseases associated with NR5A1 include 46,Xx Sex Reversal 4 and Premature Ovarian …

The NR5A1 gene provides instructions for producing a transcription factor called the steroidogenic factor 1. Learn about this gene and related health conditions.

NR5A1 mutations are associated with a wide phenotypic spectrum of disorders/differences of sex development (DSD), a group of conditions in which development of chromosomal, gonadal, or …

Four novel mutations in the NR5A1 gene were identified in our cohort with 46, XY DSD, expanding the spectrum of NR5A1 gene mutations. All patients with NR5A1 rare variants had …

This review outlines the role of NR5A1 gene during the process of gonadal development in humans, provides an overview of the molecular and functional characteristics of NR5A1 gene, …

2009年3月19日 · Mutation of NR5A1 causes 46,XY disorders of sex development, with or without adrenal failure, but growing experimental evidence from studies in mice suggests a key role for …

Mutations in NR5A1 have been reported as a frequent cause of 46,XY disorders of sex development (DSD) associated to a broad phenotypic spectrum ranging from infertility, …

NR5A1 gene variants (also called mutations) have been identified in a small number of people with Swyer syndrome, also known as 46,XY complete gonadal dysgenesis or 46, XY pure …

NR5A1 (nuclear receptor subfamily 5 group A member 1) is a transcriptional regulator of adrenal and gonadal development and function. Heterozygous and homozygous NR5A1 mutations …

Mutations of the NR5A1 gene encoding steroidogenic factor-1 have been reported in association with a wide spectrum of 46,XY DSD (Disorder of Sex Development) phenotypes including …